Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 Biomarker disease BEFREE Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. 31492822 2020
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 Biomarker disease BEFREE Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127. 31705439 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE Higher risk of phaeochromocytoma/paraganglioma (Phaeo-Pgl) in SDHD than SDHB carriers: an Australian cohort study. 30957378 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE In family 3, two cases of SDHD gene mutation were found, both characterized by vagus PGL and pheochromocytoma. 30484866 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE We report a series of 10 patients carrying pathogenic variants in the SDHD gene from five tertiary referral centers for paraganglioma (PGL) in the Netherlands, who presented with a sympathetic PGL (sPGL), pheochromocytoma (PHEO), or metastases outside the head and neck region in the absence of excessive catecholamine production. 31194241 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE We here report a 31-year-old patient with a known SDHD mutation whose disease has been revealed by a left PHEO during childhood and who presented at age 29 years a large paraganglioma of the right jugular foramen, a concomitant PHEO of the left adrenal and 2 retroperitoneal paragangliomas. 31348302 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients. 30352407 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE Multifocal Paraganglioma and Pheochromocytoma Due to Truncated SDHD Mutation. 29545045 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 Biomarker disease BEFREE We have retrospectively studied 31 genetically proven VHL patients with pheochromocytoma/paraganglioma (PCC/PGL) from families and have reviewed the World literature on PCC/PGL in patients with large VHL deletions. 29124493 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 Biomarker disease BEFREE ACC = adrenal cortical carcinoma; APA = aldosterone-producing adenoma; APCC = aldosterone-producing cell cluster; CAH = congenital adrenal hyperplasia; CT = computed tomography; DOTATATE = [<sup>68</sup>Ga]-DOTA(0)-Tyr(3)-octreotate; FDG = fluorodeoxyglucose; FH = fumarate hydratase; MR = miner-alocorticoid; MDH2 = malate dehydrogenase 2; PCC = pheochromocytoma; PET = positron emission tomography; PGL = paraganglioma; SCS = subclinical cortisol-secreting; SDHB = succinate dehydrogenase subunit B; TCGA = The Cancer Genome Atlas. 28332880 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 Biomarker disease BEFREE Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma. 27856506 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE The aim of this study was to determine whether SDHB and SDHD gene mutations in patients with pheochromocytoma/paraganglioma could be determined using a salivary sample. 26916530 2016
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 CausalMutation disease CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923 2016
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. 25405498 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE Germline mutations in Von Hippel-Lindau (VHL), succinate dehydrogenase subunit B (SDHB), SDHC, and SDHD have been detected in individuals with synchronous or metachronous pheochromocytoma/paraganglioma (PHEO/PGL) and renal cell carcinoma (RCC). 25800244 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 CausalMutation disease CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 CausalMutation disease CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 Biomarker disease BEFREE Although 14 different genes have been linked to paraganglioma/pheochromocytoma, a subgroup of these genes is associated with hereditary paraganglioma-pheochromocytoma, the genes related to mitochondrial succinate dehydrogenase (SDH) including SDHA, SDHB, SDHC, SDHD and the assembly factor SDHAF2. 26067997 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 Biomarker disease BEFREE Determining the mutational status of susceptibility genes including RET, VHL, SDHx (SDHB, SDHC, SDHD) among patients with pheochromocytoma/paraganglioma (PCC/PGL) is gaining importance. 24977658 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 Biomarker disease BEFREE All deletions include SDHD, which is implicated in hereditary paraganglioma/pheochromocytoma, for which the patients will need to be monitored in adulthood. 25735893 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 CausalMutation disease CLINVAR Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 25494863 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 Biomarker disease BEFREE The present findings for the first time demonstrate a significantly increased succinate-to-fumarate ratio in SDHB/D-related PGLs and thus suggest this ratio may be used as a new metabolic marker for the detection of SDHB/D-related PHEOs/PGLs. 24189137 2014
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 GeneticVariation disease BEFREE Here we explore the underlying molecular basis of three cases of paraganglioma or pheochromocytoma that came to our attention due to apparent maternal transmission of an SDHD mutation. 25300370 2014
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 CausalMutation disease CLINVAR Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 25275255 2014
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 AlteredExpression disease BEFREE Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas. 24322175 2014